Navigation Links
New gene discovered for new form of intellectual disability
Date:4/24/2008

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP). CAMH also discovered the previously unidentified gene that causes this disorder, CC2D2A. This scientific advance will help understand the developmental and biological processes involved in brain development, and may help identify ways to diagnose and treat intellectual disabilities.

Under the direction of Dr. John Vincent, scientist at CAMH, the team identified a mutation in CC2D2A that causes the production of a shortened protein missing the C2, or calcium-binding, domain. This protein mutation results in faulty cell function, which leads to MR with RP.

Most genes for intellectual disabilities that have been found so far are on the X chromosome. As Dr. Vincent explains, this mutation was found on the autosome (The 22 pairs of non-sex chromosomes, that make up the 46 chromosomes in the human body). Autosomal-recessive inheritance (where both mother and father carry a gene mutation on one chromosome, but both maternal and paternal copies must be passed on to the offspring to cause the disorder) is believed to be relatively common in intellectual disability, though only four genes causing this type of disability have been identified to date.

Whats really exciting is that the new gene, CC2D2A, encodes a protein with domains similar to those found in one of the previous four autosomal recessive MR genes. This link could suggest a common function that is essential for normal brain development, says Dr. Vincent.

Dr. Vincent and his team will continue exploring these initial findings, to help identify more people with mutations affecting the CC2D2A gene. This additional research will provide scientists more clues to understand, diagnose and treat intellectual disabilities.

Intellectual disabilities, also known as developmental delay or mental retardation, are a group of disorders defined by deficits in cognitive and adaptive development. Impacting between one and three percent of the population, a higher proportion of men are affected by this type of disability.


'/>"/>

Contact: Michael Torres
michael_torres@camh.net
416-595-6015
Centre for Addiction and Mental Health
Source:Eurekalert

Related biology news :

1. New source for biofuels discovered
2. Worlds oldest living tree discovered in Sweden
3. Harlequin frog rediscovered in remote region of Colombia
4. Epigenetic changes discovered in major psychosis
5. A common genetic mechanism discovered in nitrogen-fixing plants
6. ASU researcher may have discovered key to life before its origin on Earth
7. Krill discovered living in the Antarctic abyss
8. Generalist bacteria discovered in coastal waters may be more flexible than known before
9. Proteins new role discovered in autoimmune disease
10. Massive dinosaur discovered in Antarctica sheds light on life, distribution of sauropodomorphs
11. Safe and effective therapy discovered for patients with protein-losing enteropathy
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/6/2017)... Forecasts by Product Type (EAC), ... End-Use (Transportation & Logistics, Government & Public Sector, Utilities ... Generation Facility, Nuclear Power), Industrial, Retail, Business Organisation (BFSI), ... you looking for a definitive report on the $27.9bn ... ...
(Date:4/5/2017)... KEY FINDINGS The global market ... CAGR of 25.76% during the forecast period of 2017-2025. ... for the growth of the stem cell market. ... MARKET INSIGHTS The global stem cell market is segmented ... The stem cell market of the product is segmented ...
(Date:3/30/2017)... LOS ANGELES , March 30, 2017  On ... Hack the Genome hackathon at ... This exciting two-day competition will focus on developing health ... experience. Hack the Genome is ... has been tremendous. The world,s largest companies in the ...
Breaking Biology News(10 mins):
(Date:4/27/2017)... NASHVILLE, Tenn. , April 27, 2017  Pendant ... company developing innovative surface modification and drug delivery technologies, ... & Johnson Innovation, JLABS @ Toronto ... Chief Executive Officer of Pendant Biosciences, noted, "We are ... Toronto community, and are honored to ...
(Date:4/26/2017)... ... ... LABS, Inc. (LABS) announced in December 2016 that two new Zika ... Testing (NAT) for ZIKV; and Enzyme Immunoassays (EIAs) specific for IgM and IgG ZIKV ... donors under an Investigational New Drug (IND) study protocol. , Now, as part ...
(Date:4/25/2017)... ... April 25, 2017 , ... As part of the Stago ... the laboratory testing for DIC in order to illuminate this clinical problem for people ... in hospitalized patients resulting in a high degree of morbidity and mortality. DIC is ...
(Date:4/25/2017)... ... April 25, 2017 , ... Covalent Metrology ... Analytical Services unit provides high-quality data to clients, both faster and cheaper ... receipt. There are no price premiums, and customers are welcome to participate in ...
Breaking Biology Technology: